Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Abstract Background Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in the Indian population, due to lack of a thorough study of the clinical a...

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Bibliographic Details
Main Authors: Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C. Verma
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Urea cycle
UCD
OTC deficiency
Citrullinemia
Argininosuccinic aciduria
Mutation
Online Access:http://link.springer.com/article/10.1186/s13023-018-0908-1

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http://link.springer.com/article/10.1186/s13023-018-0908-1

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